Product Details

SNP ID

rs2848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:117280601 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACAGCTTTTTTCATTGAAGCTTT[G/T]TACCTTACTATACTCTAGGCTATTT

Phenotype

MIM: 614235 MIM: 193001

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PDZD8 PubMed Links

Gene Details

Gene

PDZD8

Gene Name

PDZ domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173791.4	6372	UTR 3			NP_776152.1
XM_005269518.3	6372	Intron			XP_005269575.1
XM_011539265.1	6372	Intron			XP_011537567.1
XM_011539266.2	6372	Intron			XP_011537568.1

Gene

SLC18A2

Gene Name

solute carrier family 18 member A2

There are no transcripts associated with this gene.

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